ClinVar Miner

List of variants studied for cerebellar ataxia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu) rs362936 0.01411
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_182961.4(SYNE1):c.4000C>T (p.Arg1334Cys) rs754120599 0.00005
NM_018075.5(ANO10):c.139+1G>T rs777450156 0.00003
NM_182961.4(SYNE1):c.15222A>C (p.Lys5074Asn) rs780677467 0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu) rs782474335 0.00001
NM_182961.4(SYNE1):c.3504+5G>A rs1398879746 0.00001
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_001020658.2(PUM1):c.1448C>T (p.Ala483Val)
NM_001020658.2(PUM1):c.3242+2T>C
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001130823.3(DNMT1):c.4711C>T (p.Arg1571Cys)
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899
NM_001134831.2(AHI1):c.928G>A (p.Ala310Thr)
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter) rs2151169266
NM_001163809.2(WDR81):c.5411G>T (p.Gly1804Val)
NM_001163809.2(WDR81):c.5672T>C (p.Ile1891Thr)
NM_001378452.1(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_001378452.1(ITPR1):c.1918T>C (p.Ser640Pro)
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.5327G>T (p.Gly1776Val)
NM_001378452.1(ITPR1):c.7301C>T (p.Thr2434Ile)
NM_001378452.1(ITPR1):c.7345A>G (p.Ile2449Val)
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.823G>A (p.Ala275Thr)
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro) rs2101995572
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe) rs2101995530
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg) rs2101995228
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) rs587777143
NM_001386140.1(MTTP):c.1344+2T>A
NM_001386140.1(MTTP):c.61+2T>C
NM_001447.3(FAT2):c.436C>T (p.Pro146Ser)
NM_001961.4(EEF2):c.1359G>A (p.Met453Ile) rs2145360047
NM_001961.4(EEF2):c.463C>A (p.Leu155Met)
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg) rs866406014
NM_003383.5(VLDLR):c.1962+1G>A rs2130801524
NM_004115.4(FGF14):c.256C>T (p.His86Tyr)
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_005861.4(STUB1):c.3G>T (p.Met1Ile)
NM_005861.4(STUB1):c.737C>T (p.Thr246Met) rs587777343
NM_005861.4(STUB1):c.746G>T (p.Gly249Val) rs2151506587
NM_005861.4(STUB1):c.860AGG[1] (p.Glu288del) rs770947195
NM_006796.3(AFG3L2):c.1168C>T (p.Arg390Ter)
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_006946.4(SPTBN2):c.1653+5C>T
NM_014053.4(FLVCR1):c.1058C>T (p.Thr353Met)
NM_014053.4(FLVCR1):c.441_445del (p.Trp148fs)
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_015046.7(SETX):c.6421dup (p.Gln2141fs)
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
NM_015215.4(CAMTA1):c.2072_2075del (p.Thr691fs)
NM_015215.4(CAMTA1):c.2860G>A (p.Ala954Thr)
NM_015215.4(CAMTA1):c.4618-1G>A
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
NM_015378.4(VPS13D):c.1055dup (p.Tyr352Ter)
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) rs1858145836
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs) rs771224190
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
NM_018075.5(ANO10):c.1A>G (p.Met1Val)
NM_018075.5(ANO10):c.96del (p.Glu33fs) rs758937084
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala) rs2040529103
NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg)
NM_018896.5(CACNA1G):c.4051G>A (p.Gly1351Arg)
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val) rs1555558553
NM_018896.5(CACNA1G):c.5438G>A (p.Arg1813Gln)
NM_018896.5(CACNA1G):c.5582_5590del (p.Ala1861_Glu1863del)
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)
NM_020247.5(COQ8A):c.210del (p.Asn71fs)
NM_020680.4(SCYL1):c.1180del (p.Val394fs)
NM_021814.5(ELOVL5):c.246+3859C>G
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_024411.5(PDYN):c.630C>G (p.Phe210Leu)
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) rs2136546576
NM_033109.5(PNPT1):c.2014-3C>G rs748445058
NM_152703.5(SAMD9L):c.2519T>A (p.Met840Lys)
NM_152703.5(SAMD9L):c.4144A>G (p.Asn1382Asp)
NM_182961.4(SYNE1):c.11560del (p.Ala3854fs)
NM_182961.4(SYNE1):c.18972+1G>T
NM_182961.4(SYNE1):c.19882G>A (p.Asp6628Asn)
NM_182961.4(SYNE1):c.25271_25273delinsA (p.Leu8424fs)
NM_182961.4(SYNE1):c.7849C>T (p.Arg2617Trp)
NM_182961.4(SYNE1):c.8783C>A (p.Ala2928Asp)

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